The expanding clinical and genetic spectrum of ATP1A3-related disorders.

@article{Rosewich2014TheEC,
  title={The expanding clinical and genetic spectrum of ATP1A3-related disorders.},
  author={Hendrik Rosewich and Andreas Ohlenbusch and Peter Huppke and Lars Schlotawa and Martina Baethmann and In{\^e}s C Carrilho and Simona Fiori and Charles M Lourenço and Sarah Dilys Sawyer and Robert Steinfeld and Jutta Gaertner and Knut Brockmann},
  journal={Neurology},
  year={2014},
  volume={82 11},
  pages={945-55}
}
OBJECTIVE We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation. METHODS We identified 16 new patients with alternating hemiplegia of childhood (AHC) and 3 new patients with rapid-onset dystonia-parkinsonism (RDP) and included these as well as the clinical and molecular findings of all previously reported 164 patients with mutation-positive AHC and RDP in our analyses. RESULTS Major clinical… CONTINUE READING